| Direct DNA testing for fragile X syndrome. | |
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MedLine Citation:
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PMID: 7901988 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The recent identification of an abnormally amplified trinucleotide (cytosine guanine guanine) repeat in the fragile X gene (FMR-1) of males with fragile X syndrome and their carrier mothers allows the study of the mutation in individuals at risk. In this report, data on 396 patients and 35 normal controls are reported. Included in this sample are patients with no known family history of fragile X syndrome or mental retardation for whom the risks of fragile X syndrome are unclear. All 39 cytogenetically positive affected males and six females had the full mutation, as represented by a restriction fragment size increase (delta) of 500 base pairs (bp) or more within the cytosine guanine guanine repeat-bearing fragment of the FMR-1 gene; and all 16 of the normal obligate carrier females bore the premutation, as demonstrated by a delta of 100 to 500 bp. Of 124 patients (62 males and 62 females) with a family history of fragile X syndrome, five (8%) of the males and 25 (40%) of the females had the premutation. Five (2.2%) of the 231 mentally impaired patients with no confirmed family history of fragile X syndrome were found to have the full mutation. Twelve (33%) of 36 mentally impaired males and one (20%) of five females with unknown family history were found to carry an amplified cytosine guanine guanine repeat. Using this technique, we also reevaluated risk assessments previously generated by linkage analysis and unambiguously determined the carrier status of individual family members. |
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Authors:
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F J Ramos; D L Eunpu; B Finucane; E G Pfendner |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: American journal of diseases of children (1960) Volume: 147 ISSN: 0002-922X ISO Abbreviation: Am. J. Dis. Child. Publication Date: 1993 Nov |
Date Detail:
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Created Date: 1993-12-09 Completed Date: 1993-12-09 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0370471 Medline TA: Am J Dis Child Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1231-5 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cytosine Nucleotides DNA / analysis* Female Fragile X Syndrome / diagnosis*, genetics Gene Amplification Gene Expression Humans Linkage (Genetics) Male Mental Retardation / genetics Mutation Pedigree Phenotype Polymorphism, Restriction Fragment Length |
| Chemical | |
Reg. No./Substance:
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0/Cytosine Nucleotides; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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